DNAJC1 (DnaJ heat shock protein family (Hsp40) member C1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64215
• Gene name: DnaJ heat shock protein family (Hsp40) member C1
• Gene symbol: DNAJC1
• Synonyms (NCBI Gene): DNAJL1, ERdj1, HTJ1, MTJ1
• Chromosome: 10
• Chromosome location: 10p12.31
• Summary: The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha tryp

miRNA Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002721	hsa-miR-124-3p	Microarray	15685193
MIRT002721	hsa-miR-124-3p	Microarray	15685193
MIRT002721	hsa-miR-124-3p	Microarray	18668037
MIRT031667	hsa-miR-16-5p	Proteomics	18668040
MIRT032341	hsa-let-7b-5p	Proteomics	18668040
MIRT940550	hsa-let-7a	CLIP-seq
MIRT940551	hsa-let-7b	CLIP-seq
MIRT940552	hsa-let-7c	CLIP-seq
MIRT940553	hsa-let-7d	CLIP-seq
MIRT940554	hsa-let-7e	CLIP-seq
MIRT940555	hsa-let-7f	CLIP-seq
MIRT940556	hsa-let-7g	CLIP-seq
MIRT940557	hsa-let-7i	CLIP-seq
MIRT940558	hsa-miR-124	CLIP-seq
MIRT940559	hsa-miR-1277	CLIP-seq
MIRT940560	hsa-miR-202	CLIP-seq
MIRT940561	hsa-miR-3148	CLIP-seq
MIRT940562	hsa-miR-3646	CLIP-seq
MIRT940563	hsa-miR-3662	CLIP-seq
MIRT940564	hsa-miR-3714	CLIP-seq
MIRT940565	hsa-miR-3910	CLIP-seq
MIRT940566	hsa-miR-3978	CLIP-seq
MIRT940567	hsa-miR-4458	CLIP-seq
MIRT940568	hsa-miR-4461	CLIP-seq
MIRT940569	hsa-miR-4500	CLIP-seq
MIRT940570	hsa-miR-4662a-3p	CLIP-seq
MIRT940571	hsa-miR-4698	CLIP-seq
MIRT940572	hsa-miR-4757-3p	CLIP-seq
MIRT940573	hsa-miR-4795-3p	CLIP-seq
MIRT940574	hsa-miR-493	CLIP-seq
MIRT940575	hsa-miR-506	CLIP-seq
MIRT940576	hsa-miR-513a-3p	CLIP-seq
MIRT940577	hsa-miR-544	CLIP-seq
MIRT940578	hsa-miR-579	CLIP-seq
MIRT940579	hsa-miR-664	CLIP-seq
MIRT940580	hsa-miR-98	CLIP-seq
MIRT940550	hsa-let-7a	CLIP-seq
MIRT940551	hsa-let-7b	CLIP-seq
MIRT940552	hsa-let-7c	CLIP-seq
MIRT940553	hsa-let-7d	CLIP-seq
MIRT940554	hsa-let-7e	CLIP-seq
MIRT940555	hsa-let-7f	CLIP-seq
MIRT940556	hsa-let-7g	CLIP-seq
MIRT940557	hsa-let-7i	CLIP-seq
MIRT940560	hsa-miR-202	CLIP-seq
MIRT940567	hsa-miR-4458	CLIP-seq
MIRT940568	hsa-miR-4461	CLIP-seq
MIRT940569	hsa-miR-4500	CLIP-seq
MIRT940571	hsa-miR-4698	CLIP-seq
MIRT940576	hsa-miR-513a-3p	CLIP-seq
MIRT940577	hsa-miR-544	CLIP-seq
MIRT940580	hsa-miR-98	CLIP-seq

Gene ontology (GO) Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001671	Function	ATPase activator activity	IEA
GO:0001671	Function	ATPase activator activity	TAS	14668352
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	14668352, 16271702, 28514442, 32296183, 32814053, 33961781, 35156780, 36012204
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006457	Process	Protein folding	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0045861	Process	Negative regulation of proteolysis	TAS	14668352
GO:0050708	Process	Regulation of protein secretion	IDA	14668352
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA

Other IDs

• MIM: 611207
• HGNC: 20090
• e!Ensembl: ENSG00000136770

Protein

• UniProt ID: Q96KC8
• Protein name: DnaJ homolog subfamily C member 1 (DnaJ protein homolog MTJ1)
• Protein function: May modulate protein synthesis.
• PDB: 2CQQ , 2CQR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00226	DnaJ	65 → 126	DnaJ domain	Domain
  PF00249	Myb_DNA-binding	494 → 543	Myb-like DNA-binding domain	Domain

• Sequence:

  MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVE
  EVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDE
  RRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLD
  ELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPH
  LIQDAGQFYAKYKETRLKEKEDALTRTELETLQKQKKVKKPKPEFPVYTPLETTYIQSYD
  HGTSIEEIEEQMDDWLENRNRTQKKQAPEWTEEDLSQLTRSMVKFPGGTPGRWEKIAHEL
  GRSVTDVTTKAKQLKDSVTCSPGMVRLSELKSTVQNSRPIKTATTLPDDMITQREDAEGV
  AAEEEQEGDSGEQETGATDARPRRRKPARLLEATAKPEPEEKSRAKRQKDFDIAEQNESS
  DEESLRKERARSAEEPWTQNQQKLLELALQQYPRGSSDRWDKIARCVPSKSKEDCIARYK
  LLVELVQKKKQAKS

• Sequence length: 554

Pathways

KEGG Pathway:

Protein processing in endoplasmic reticulum

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (24)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTHMA	—	GWAS catalog	35472084	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	30410027, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	23535729, 25751625, 29059683, 32139696	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	23535729, 25751625, 27432226, 29059683, 32139696, 32887889, 35803233	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	35472084	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	32589924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	22535842	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	27432226, 32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	27432226, 32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (9)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	33735170	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31648321	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19838160	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26480920	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	17052657		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34732256	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CBFA2T2 4 shared diseasesBenign prostatic hyperplasia, Cancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 4 shared evidence sourcesGWAS catalog (Benign prostatic hyperplasia), GWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 4 shared diseases including Benign prostatic hyperplasia, Cancer — evidence mostly GWAS catalog. LMTK2 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. PRKCI 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. BZW1 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 4 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), CTD (Melanoma), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. MSMB 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CBFA2T2	4	["Benign prostatic hyperplasia","Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	4	["GWAS catalog (Benign prostatic hyperplasia)","GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
LMTK2	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
PRKCI	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
BZW1	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	4	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","CTD (Melanoma)","GWAS catalog (Ovarian serous carcinoma)"]
MSMB	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]

Diseases Linked via Similar Genes

Non-melanoma skin carcinoma Linked via 2 of 5 related genesCBFA2T2, BZW1 Diabetes mellitus type 2 Linked via 2 of 5 related genesCBFA2T2, LMTK2 Prostatic neoplasms Linked via 2 of 5 related genesLMTK2, MSMB Basal cell carcinoma Linked via 1 of 5 related genesCBFA2T2 Gout Linked via 1 of 5 related genesLMTK2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Non-melanoma skin carcinoma	2	["CBFA2T2","BZW1"]
Diabetes mellitus type 2	2	["CBFA2T2","LMTK2"]
Prostatic neoplasms	2	["LMTK2","MSMB"]
Basal cell carcinoma	1	["CBFA2T2"]
Gout	1	["LMTK2"]